Evan E. Eichler, Ph.D.
University of Washington
M.I.N.D. Institute Distinguished Lecturer Series – January 11, 2012
Biographical Information
Evan Eichler, Ph.D., is a Professor and Howard Hughes Medical Institute Investigator in the
Department of Genome Sciences, University of Washington School of Medicine. Dr. Eichler is a leader in
an effort to identify and sequence normal and disease-causing structural variation in the human genome.
His research group provided the first genome-wide view of segmental duplications within human and
other primate genomes. The long-term goal of his research is to understand the evolution and mechanisms
of recent gene duplication and its relationship to copy number variation and human disease. A graduate in
biology of the University of Saskatchewan, Canada, he received his Ph.D. in 1995 from the Department
of Molecular and Human Genetics at Baylor College of Medicine, Houston. After a Hollaender postdoctoral fellowship at Lawrence Livermore National Laboratory, he joined the faculty of Case Western
Reserve University in 1997 and later the Department of Genome Sciences at the University of
Washington in 2004. He was a March of Dimes Basil O’Connor Scholar (1998-2001), appointed as an
HHMI Investigator (2005), and awarded an AAAS Fellowship (2006) and the American Society of
Human Genetics Curt Stern Award (2008). He is an editor of Genome Research and has served on various
scientific advisory boards for both NIH and NSF.
Presentation Abstract (4:30 pm)
Copy Number Variation, Exome Sequencing and Autism.
It has become apparent that genetic structural variation contributes significantly to both
neurocognitive and neuropsychiatric disease. I will present a detailed study of the genomes of children
with developmental delay compared to adult controls and show that as much as 14% of pediatric disease,
including autism, epilepsy and intellectual disability, is caused by deletions and duplications of large
segments of the genome involving multiple genes. These mutations can be either inherited or found in the
parents of children depending on the size of the event. I will present evidence from exome sequencing of
over 200 parent-child trios with sporadic autism and show how these data may be used to pinpoint novel
genes underlying CNV (copy number variation) burden, as well as provide insight into new pathways. We
find that some of the same disease-causing mutations can manifest very differently and in particular be
more severe if they occur on a background of other compounding mutations. We predict that the overall
burden of rare and private severe mutations will correlate with different outcomes ranging from autism,
intellectual disability and epilepsy. We propose that the early development of the brain is particularly
sensitive to the timing and expression of many different genes and that multiple genetic perturbations
within specific pathways can lead to disease with varying severity.